Oculocutaneous albinism type 5

General Information (adopted from Orphanet):

Synonyms, Signs: OCA5
Number of Symptoms 9
OrphanetNr: 370091
OMIM Id: 615312
ICD-10: E70.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 families - PMID: 23050561 [IBIS]
Inheritance: Autosomal recessive
- PMID: 23050561 [IBIS]
Age of onset: Neonatal
Infancy
- PMID: 23050561 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Oculocutaneous albinism
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus 23050561 IBIS 555 / 7739
2
 (HPO:0000613) Photophobia 23050561 IBIS 158 / 7739
3
 (HPO:0007750) Hypoplasia of the fovea 23050561 IBIS 11 / 7739
4
 (HPO:0001022) Albinism 23050561 IBIS 43 / 7739
5
 (OMIM) White skin 23050561 IBIS 2 / 7739
6
 (OMIM) Depigmented iris 23050561 IBIS 1 / 7739
7
 (OMIM) Impaired visual acuity 23050561 IBIS 2 / 7739
8
 (OMIM) Golden-colored hair 23050561 IBIS 1 / 7739
9
 (OMIM) Albinotic fundus 23050561 IBIS 2 / 7739

Associated genes:

locus 4q24;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Oculocutaneous albinism is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin, and hair (summary by Kausar et al., 2013).

For a general phenotypic description and a discussion of genetic heterogeneity ...
Clinical Description OMIM Kausar et al. (2013) reported a consanguineous Pakistani family (PKAB80) in which 6 members had golden-colored hair, white skin, nystagmus, photophobia, foveal hypoplasia, and impaired visual acuity. Physical, clinical, and hematologic evaluations of affected individuals revealed no other ...